Clinical and Genetic Characteristics of 9 Children with Androgen Insensitivity Syndrome:an Analytical Report
Objective To analyze clinical data and genetic results in patients with androgen in-sensitivity syndrome(AIS).Methods Clinical data of 9 AIS patients who attended Jiangxi Chil-dren's Hospital from 2017 to 2022 were collected;relevant laboratory tests and gonadal and in-guinal ultrasound were improved;gene mutation testing was performed.Results The chromo-somes of all 9 patients were of male karyotype,the social sex of 7 patients being female and 2 male;all patients had oblique inguinal hernia(or with gender ambiguity)as the reason for their visit;all of them were found to have mutations in the AR gene,with 1 case being a new mutation(p.R608fs*18).66.6％(6/9)of AIS patients had mutations in ligand binding domains;80％(4/5)of complete androgen insensitivity syndrome patients had mutations in LBD;50％(2/4)of partial androgen insensitivity syndrome patients had mutations in LBD;missense mutations were found in 55.5％(5/9)of AIS patients.Conclusion Missense mutations could be the common mutation type of AR gene;LBD could be the main mutation site of AIS,and external genitalia might mani-fest in female patients.If oblique inguinal hernia is found,gonad and inguinal color ultrasound could be routinely considered to exclude AIS.
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